Canonical Allele Identifier: PA281823
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36094
ClinVar RCV Id: RCV000029756
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser19Phe
CA015969
NM_000138.5:c.56C>T